Diagnosis in bile acid-CoA:Amino acid N-acyltransferase deficiency  

作　　者：Nedim Hadzi Laura N Bull Peter T Clayton AS Knisely 

机构地区：[1]Paediatric Liver Service and Institute of Liver Studies,King's College Hospital,London SE5 9RS,United Kingdom [2]Liver Center Laboratory,University of California San Francisco,San Francisco,CA 94110,United States [3]Biochemistry Research Group,Clinical and Molecular Genetics Unit,University College London Institute of Child Health,London WC1 N1EH,United Kingdom [4]Institute of Liver Studies,King's College Hospital,London SE5 9RS,United Kingdom

出　　处：《World Journal of Gastroenterology》2012年第25期3322-3326,共5页世界胃肠病学杂志（英文版）

基　　金：Supported by Great Ormond Street Hospital Children’s Charity, to Clayton PT;National Institutes of Health;Grant R01 DK58214, to Bull LN

摘　　要：Cholate-CoA ligase （,EEL） and bile acid-CoA： amino acid N-acyltransferase （BAAT） sequentially mediate bile-acid amidation. Defects can cause intrahepatic cholestasis. Distinction has required gene sequencing. We assessed potential clinical utility of immunostaining of liver for CCL and BAAT. Using commercially available antibodies against BAAT and CCL, we immunostained liver from an infant with jaundice, deficiency of amidated bile acids, and transcription-terminating mutation in BAAT. CCL was normally expressed. BAAT expression was not de- tected. Immunostaining may facilitate diagnosis in bile- acid amidation defects.Cholate-CoA ligase(CCL) and bile acid-CoA:amino acid N-acyltransferase(BAAT) sequentially mediate bile-acid amidation.Defects can cause intrahepatic cholestasis.Distinction has required gene sequencing.We assessed potential clinical utility of immunostaining of liver for CCL and BAAT.Using commercially available antibodies against BAAT and CCL,we immunostained liver from an infant with jaundice,deficiency of amidated bile acids,and transcription-terminating mutation in BAAT.CCL was normally expressed.BAAT expression was not detected.Immunostaining may facilitate diagnosis in bileacid amidation defects.

关 键 词：AMIDATION Bile acid-CoA Amino acid N-ac- yltransferase Cholate-CoA ligase  Cholestasis Conjuga-tion Electrospray ionisation-mass spectroscopy Immu-nohistochemistry Liver Neonatal hepatitis SIC27A5 Transmission electron microscopy 

分 类 号：R589[医药卫生—内分泌]